Emerging pathways in genetic Parkinson's disease: Autosomal-recessive genes in Parkinson's disease - a common pathway?

被引:52
作者
Fitzgerald, Julia C. [1 ]
Plun-Favreau, Helene [1 ]
机构
[1] UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
基金
英国医学研究理事会;
关键词
cell death; DJ-1; HtrA2; mitochondria; mutation; neuron; Parkin; Parkinson's disease; PINK1; signalling;
D O I
10.1111/j.1742-4658.2008.06708.x
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Rare, inherited mutations causing familial forms of Parkinson's disease have provided insight into the molecular mechanisms that underlie the genetic and sporadic forms of this disease. Loss of protein function resulting from autosomal-recessive mutations in PTEN-induced putative kinase 1 (PINK1), Parkin and DJ-1 has been linked to mitochondrial dysfunction, accumulation of abnormal and misfolded proteins, impaired protein clearance and oxidative stress. Accumulating evidence suggests that wild-type PINK1, Parkin and DJ-1 may be key components of neuroprotective signalling cascades that run in parallel, interact via cross talk or converge in a common pathway.
引用
收藏
页码:5758 / 5766
页数:9
相关论文
共 97 条
[1]   Parkinsonism genes: culprits and clues [J].
Abeliovich, Asa ;
Beal, M. Flint .
JOURNAL OF NEUROCHEMISTRY, 2006, 99 (04) :1062-1072
[2]   The role of pathogenic DJ-1 mutations in Parkinson's disease [J].
Abou-Sleiman, PM ;
Healy, DG ;
Quinn, N ;
Lees, AJ ;
Wood, NW .
ANNALS OF NEUROLOGY, 2003, 54 (03) :283-286
[3]   Expanding insights of mitochondrial dysfunction in Parkinson's disease [J].
Abou-Sleiman, PM ;
Muqit, MMK ;
Wood, NW .
NATURE REVIEWS NEUROSCIENCE, 2006, 7 (03) :207-219
[4]   Oxidative stress in neurodegeneration: cause or consequence? [J].
Andersen, JK .
NATURE MEDICINE, 2004, 10 (07) :S18-S25
[5]   Loss of PINK1 function affects development and results in neurodegeneration in zebrafish [J].
Anichtchik, Oleg ;
Diekmann, Heike ;
Fleming, Angeleen ;
Roach, Alan ;
Goldsmith, Paul ;
Rubinsztein, David C. .
JOURNAL OF NEUROSCIENCE, 2008, 28 (33) :8199-8207
[6]   Phosphorylation of parkin by the cyclin-dependent kinase 5 at the linker region modulates its ubiquitin-ligase activity and aggregation [J].
Avraham, Eyal ;
Rott, Ruth ;
Liani, Esti ;
Szargel, Raymonde ;
Engelender, Simone .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2007, 282 (17) :12842-12850
[7]   Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability [J].
Beilina, A ;
Van Der Brug, M ;
Ahmad, R ;
Kesavapanyt, S ;
Miller, DW ;
Petsko, GA ;
Cookson, MR .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (16) :5703-5708
[8]   Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease [J].
Bogaerts, Veerle ;
Nuytemans, Karen ;
Reumers, Joke ;
Pals, Philippe ;
Engelborghs, Sebastiaan ;
Pickut, Barbara ;
Corsmit, Ellen ;
Peeters, Karin ;
Schymkowitz, Joost ;
De Deyn, Peter Paul ;
Cras, Patrick ;
Rousseau, Frederic ;
Theuns, Jessie ;
Van Broeckhoven, Christine .
HUMAN MUTATION, 2008, 29 (06) :832-840
[9]   Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism [J].
Bonifati, V ;
Rizzu, P ;
van Baren, MJ ;
Schaap, O ;
Breedveld, GJ ;
Krieger, E ;
Dekker, MCJ ;
Squitieri, F ;
Ibanez, P ;
Joosse, M ;
van Dongen, JW ;
Vanacore, N ;
van Swieten, JC ;
Brice, A ;
Meco, G ;
van Duijn, CM ;
Oostra, BA ;
Heutink, P .
SCIENCE, 2003, 299 (5604) :256-259
[10]   Assessment of the direct and indirect effects of MPP+ and dopamine on the human proteasome:: implications for Parkinson's disease aetiology [J].
Caneda-Ferron, Begona ;
De Girolamo, Luigi A. ;
Costa, Teresa ;
Beck, Katy E. ;
Layfield, Robert ;
Billett, E. Ellen .
JOURNAL OF NEUROCHEMISTRY, 2008, 105 (01) :225-238